Background Autism spectrum disorder (ASD) is a neurodevelopmental condition, which is
characterized by clinical heterogeneity and high heritability. Core symptoms of ASD include …

The way in which the behavioral manifestations of autism spectrum disorder (ASD) emerge
in infancy is variable. Regression—loss of previously acquired skills—occurs in a subset of …

Phelan-McDermid syndrome (PMS) was initially called the 22q13 deletion syndrome based
on its etiology as a deletion of the distal long arm of chromosome 22. These included …

Mutation or deletion of the SHANK3 gene, which encodes a synaptic scaffolding protein, is
linked to autism spectrum disorder and Phelan-McDermid syndrome, conditions associated …

Childhood apraxia of speech (CAS), the prototypic severe childhood speech disorder, is
characterized by motor programming and planning deficits. Genetic factors make …

Abstract Individuals with Phelan-McDermid syndrome (PMS) present with a wide range of
developmental, medical, cognitive and behavioral abnormalities. Previous literature has …

Phelan–McDermid syndrome (PMS) is a genetic condition caused by SHANK3
haploinsufficiency and characterized by a wide range of neurodevelopmental and systemic …

Despite intensive studies in modeling neuropsychiatric disorders especially autism spectrum
disorder (ASD) in animals, many challenges remain. Genetic mutant mice have contributed …

Phelan-McDermid syndrome (PMS) is caused by haploinsufficiency of the SHANK3 gene on
chromosome 22q13. 33 and is characterized by intellectual disability, hypotonia, severe …

Abstract Phelan‐McDermid syndrome (PMS, OMIM# 606232), also known as chromosome
22q13 deletion syndrome, is a rare genetic disorder characterized by intellectual disability …